disequilibrium OR imbalance OR disproportion - OMIM - NCBI

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Select item 3005801.

%300580 - MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX

Cytogenetic locations: 16173074

OMIM:: 300580

Gene summaries Genetic tests Medical literature

Select item 2553102.

#255310 - CONGENITAL MYOPATHY 4A, AUTOSOMAL DOMINANT; CMYO4A

Cytogenetic locations: 1q21.3

OMIM:: 255310

Gene summaries Genetic tests Medical literature

Select item 6177603.

#617760 - MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Cytogenetic locations: 27816943

OMIM:: 617760

Gene summaries Genetic tests Medical literature

Select item 6176714.

#617671 - HELIX SYNDROME; HELIX

Cytogenetic locations: 28686597

OMIM:: 617671

Gene summaries Genetic tests Medical literature

Select item 6127805.

#612780 - SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; SESAMES

Cytogenetic locations: 19289823

OMIM:: 612780

Gene summaries Genetic tests Medical literature

Select item 6094796.

*609479 - MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 20; MAP3K20

Cytogenetic locations: 12535642

OMIM:: 609479

Gene summaries Genetic tests Medical literature

Select item 6090297.

#609029 - EMANUEL SYNDROME

Cytogenetic locations: 17211960

OMIM:: 609029

Gene summaries Genetic tests Medical literature

Select item 6194248.

#619424 - MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12

Cytogenetic locations: 23365102

OMIM:: 619424

Gene summaries Genetic tests Medical literature

Select item 6202789.

#620278 - CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT; CMYO2C

Cytogenetic locations: 600759

OMIM:: 620278

Gene summaries Genetic tests Medical literature

Select item 25532010.

#255320 - CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYO1B

Cytogenetic locations: 23553787

OMIM:: 255320

Gene summaries Genetic tests Medical literature

Select item 60835811.

#608358 - CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A

OMIM:: 608358

Gene summaries Genetic tests Medical literature

Select item 61927212.

#619272 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37

Cytogenetic locations: 609170

OMIM:: 619272

Gene summaries Genetic tests Medical literature

Select item 61685213.

#616852 - MYOPATHY, SCAPULOHUMEROPERONEAL; SHPM

Cytogenetic locations: 600759

OMIM:: 616852

Gene summaries Genetic tests Medical literature

Select item 62038914.

#620389 - NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT; NEM5C

Cytogenetic locations: 14315666

OMIM:: 620389

Gene summaries Genetic tests Medical literature

Select item 25494015.

#254940 - CAREY-FINEMAN-ZITER SYNDROME 1; CFZS1

Cytogenetic locations: 15150779

OMIM:: 254940

Gene summaries Genetic tests Medical literature

Select item 10812016.

#108120 - ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

ARTHROGRYPOSIS, DISTAL, TYPE 2B4, INCLUDED; DA2B4, INCLUDED

Cytogenetic locations: 17339586

OMIM:: 108120

Gene summaries Genetic tests Medical literature

Select item 61486317.

#614863 - PEROXISOME BIOGENESIS DISORDER 4B; PBD4B

Cytogenetic locations: 22871920

OMIM:: 614863

Gene summaries Genetic tests Medical literature

Select item 19300718.

%193007 - VERTIGO, BENIGN RECURRENT; BRV

VERTIGO, BENIGN RECURRENT, 1, INCLUDED; BRV1, INCLUDED

Cytogenetic locations: 11343320

OMIM:: 193007

Gene summaries Genetic tests Medical literature

Select item 61641019.

#616410 - SPINOCEREBELLAR ATAXIA 41; SCA41

Cytogenetic locations: 25477146

OMIM:: 616410

Gene summaries Genetic tests Medical literature

Select item 61812020.

#618120 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5

Cytogenetic locations: 29478781

OMIM:: 618120

Gene summaries Genetic tests Medical literature

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